Individual #00019698

ID_report -
Reference PubMed: Kelsell 2005
Remarks 5-generation family, 7 affecteds (5F, 2M), unaffected carrier parents and sibs
Gender -
Consanguinity yes
Country United Kingdom (Great Britain)
Population Pakistani
Age at death >20y (later than 20 years)
VIP 0
Data_av -
Treatment -
Panel size 7
Diseases ARCI-4A
Owner name Marianne Vos (LOVD-team)


Phenotypes

ichthyosis, congenital, autosomal recessive, type 4A (ARCI-4A) (ARCI-4A)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Inheritance     

Age/Examination     

Age/Diagnosis     

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Phenotype/Onset     

Protein     

Owner     
0000017500 harlequin ichthyosis (HI); severe ichthyosiform erythroderma - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019685 DNA SEQ ? - ABCA12 1 Marianne Vos (LOVD-team)



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Owner     

Gene     

Codon change     

IDbase Accession Number     

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Haplotype     

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Exon_old     

DNA/Legacy     

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Predicted     

Type/DNA     

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CpG     

Enzyme activity     

mRNA level     

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Legacy protein change     

Protein level     
2 Both (homozygous) +/. - pathogenic g.215809746del g.214945022del 7541delC - ABCA12_000002 - PubMed: Kelsell 2005 - - Germline yes - - 0 - Marianne Vos (LOVD-team) ABCA12 - - - - - 49 NM_173076.2:c.7323del - r.(?) p.(Val2442Serfs*22) - - - - - - - - - - - - - - - - - - - -
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